Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Contents
Sphingomyelin phosphodiesterase 4 (
SMPD4
) encodes a member of the Mg
2+
-dependent, neutral sphingomyelinase family that catalyzes the hydrolysis of the phosphodiester bond of sphingomyelin to form phosphorylcholine and ceramide. Recent studies have revealed that biallelic loss-of-function variants of
SMPD4
cause syndromic neuro...
Alternative Titles
Full title
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
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Record Identifier
TN_cdi_proquest_miscellaneous_2882325307
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2882325307
Other Identifiers
ISSN
1364-6753,1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-023-00737-5
